Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173236C= , CM000678.2:g.173236C= | GRCh38 |
| NC_000016.9:g.223235C= , CM000678.1:g.223235C= | GRCh37 |
| NC_000016.8:g.163235C= | NCBI36 |
| NG_000006.1:g.34099C= | |
| NG_059186.1:g.1586C= | |
| NG_059271.1:g.5390C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.207C= MANE Select | NP_000508.1:p.Asn69= |
| ENST00000251595.11:c.207C= MANE Select | ENSP00000251595.6:p.Asn69= |
| NM_000517.4:c.207C= | NP_000508.1:p.Asn69= |
| ENST00000251595.10:c.207C= | ENSP00000251595.6:p.Asn69= |
| ENST00000397806.1:c.111C= | ENSP00000380908.1:p.Asn37= |
| ENST00000482565.1:n.343C= | |
| ENST00000484216.1:n.176C= |